Ignite Creation Date:
2024-05-05 @ 11:30 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00061607
Status:
COMPLETED
Last Update Posted:
2017-10-06
First Post:
2003-05-29
Brief Title:
Measuring Levels of SMN in Blood Samples of SMA Patients
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro
Status:
COMPLETED
Status Verified Date:
2017-04-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Spinal muscular atrophy SMA is a disorder that affects the motor neurons SMA is caused by a mutation in a part of the DNA called the survival motor neuron SMN1 gene which normally produces a protein called SMN Because of their gene mutation people with SMA make less SMN protein which results in the loss of motor neurons SMA symptoms may be improved by increasing the levels of SMN protein The purpose of this study is to determine whether a drug called a histone deacetylase inhibitor can increase SMN levels
After undergoing a general medical and neurological evaluation study participants will donate a blood sample Researchers will use this sample to measure SMN levels They will also isolate cells from the blood and treat the cells with various drugs that may increase SMN levels
After undergoing a general medical and neurological evaluation study participants will donate a blood sample Researchers will use this sample to measure SMN levels They will also isolate cells from the blood and treat the cells with various drugs that may increase SMN levels
Detailed Description:
Spinal muscular atrophy SMA is a currently untreatable autosomal recessive motor neuron disease that is caused by deficiency of full-length survival motor neuron SMN protein One promising therapeutic approach to SMA is to pharmacologically increase full-length SMN protein levels Several compounds have been shown to increase SMN levels in immortalized cell lines derived from SMA patients The objective of this study is to determine baseline SMN levels in primary peripheral blood cells of SMA patients and heterozygous carriers compared to unaffected controls and to investigate the effects in vitro of pharmacological compounds that are expected to increase SMN levels It is anticipated that these studies will provide further evidence to support the use of one or more of these compounds in a clinical trial for SMA patients The study population will include patients with genetically proven type I II or III SMA and their family members Blood samples from anonymous unaffected control patients will be obtained through the department of transfusion medicine 99-CC-0168 This is an investigative study that involves blood drawing only No new therapy will be provided except the standard of care
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-N-0203 | None | None | None |